The protein encoded by this gene is a member of the WD repeat superfamily of proteins, which have regulatory functions. This gene is expressed in many tissue types including several types of eye tissue, and it has been associated with ocular phenotypes. In addition, it is upregulated in cultured cells that overexpress growth factor independence 1B, a transcription factor that i... See more...

Aliases for DMXL1 Gene

Aliases for DMXL1 Gene

  • Dmx Like 1 2 3 5
  • DmX-Like Protein 1 3 4
  • X-Like 1 Protein 4
  • DMXL1 5
  • XL1 4

External Ids for DMXL1 Gene

Previous GeneCards Identifiers for DMXL1 Gene

  • GC05P118107
  • GC05P118805
  • GC05P118437
  • GC05P118483
  • GC05P118435
  • GC05P113594

Summaries for DMXL1 Gene

Entrez Gene Summary for DMXL1 Gene

  • The protein encoded by this gene is a member of the WD repeat superfamily of proteins, which have regulatory functions. This gene is expressed in many tissue types including several types of eye tissue, and it has been associated with ocular phenotypes. In addition, it is upregulated in cultured cells that overexpress growth factor independence 1B, a transcription factor that is essential for hematopoietic cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

GeneCards Summary for DMXL1 Gene

DMXL1 (Dmx Like 1) is a Protein Coding gene. Diseases associated with DMXL1 include Retinitis Pigmentosa 69 and Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency. An important paralog of this gene is DMXL2.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DMXL1 Gene

Genomics for DMXL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DMXL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J119069 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 604.9 +35.5 35451 7.3 BRCA1 ARHGAP35 SP1 CREB1 PRDM10 ZNF629 SIX5 IKZF1 ZNF692 POLR2A DMXL1 DTWD2 ENSG00000249494 LOC105379143 NONHSAG041343.2 piR-40176-026 TNFAIP8
GH05J119036 Enhancer 0.8 Ensembl ENCODE 605 -1.3 -1272 1.4 JUND PRDM1 DPF2 ZNF10 FOS JUN FOSL1 FOSL2 BHLHE40 ZNF366 DMXL1 DTWD2 ENSG00000250928 lnc-DMXL1-6 LOC105379143 ENSG00000249494
GH05J119037 Enhancer 0.5 ENCODE 600.7 0.0 -41 0.1 CREB1 FOXA1 RFX1 BMI1 CTBP1 GATA3 DPF2 NFIB DMXL1 piR-35674-422 ENSG00000250928 lnc-DMXL1-6 LOC105379143 ENSG00000249494 DTWD2
GH05J119038 Enhancer 0.3 Ensembl 600.7 +1.0 1029 0.4 ZNF697 PRDM12 DMXL1 piR-35674-422 ENSG00000249494 LOC105379143 TNFAIP8
GH05J119218 Enhancer 0.8 Ensembl 67 +182.3 182329 2.2 ZNF221 ZNF629 SP1 ZNF501 RBAK ZNF140 DPF2 ZXDB FOXA2 ZNF138 DMXL1 LAMTOR3P2 PTMAP2 ENSG00000249494 RF00017-4833 KR153194-158 TNFAIP8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DMXL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DMXL1

Top Transcription factor binding sites by QIAGEN in the DMXL1 gene promoter:
  • AML1a
  • C/EBPalpha
  • E47
  • MAZR
  • Nkx2-2
  • NRSF form 1
  • NRSF form 2
  • Pax-5
  • PPAR-alpha
  • Tal-1

Genomic Locations for DMXL1 Gene

Genomic Locations for DMXL1 Gene
chr5:119,037,772-119,249,432
(GRCh38/hg38)
Size:
211,661 bases
Orientation:
Plus strand
chr5:118,373,467-118,584,833
(GRCh37/hg19)
Size:
211,367 bases
Orientation:
Plus strand

Genomic View for DMXL1 Gene

Genes around DMXL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMXL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMXL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMXL1 Gene

Proteins for DMXL1 Gene

  • Protein details for DMXL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y485-DMXL1_HUMAN
    Recommended name:
    DmX-like protein 1
    Protein Accession:
    Q9Y485

    Protein attributes for DMXL1 Gene

    Size:
    3027 amino acids
    Molecular mass:
    337839 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DMXL1 Gene

Post-translational modifications for DMXL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DMXL1 Gene

Domains & Families for DMXL1 Gene

Gene Families for DMXL1 Gene

Protein Domains for DMXL1 Gene

Suggested Antigen Peptide Sequences for DMXL1 Gene

GenScript: Design optimal peptide antigens:
  • DMXL1 protein (B2RWN7_HUMAN)
  • Dmx-like 1, isoform CRA_a (D3DT08_HUMAN)
  • DmX-like protein 1 (DMXL1_HUMAN)
  • DmX-like protein 1 (F1T0K4_HUMAN)
  • DMXL1 protein (Q05C95_HUMAN)
genes like me logo Genes that share domains with DMXL1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DMXL1 Gene

Function for DMXL1 Gene

Phenotypes From GWAS Catalog for DMXL1 Gene

Gene Ontology (GO) - Molecular Function for DMXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with DMXL1: view
genes like me logo Genes that share phenotypes with DMXL1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DMXL1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DMXL1 Gene

Localization for DMXL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DMXL1 gene
Compartment Confidence
nucleus 4
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DMXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0043291 RAVE complex IBA 21873635
genes like me logo Genes that share ontologies with DMXL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DMXL1 Gene

Pathways & Interactions for DMXL1 Gene

PathCards logo

SuperPathways for DMXL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DMXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007035 vacuolar acidification IBA 21873635
genes like me logo Genes that share ontologies with DMXL1: view

No data available for Pathways by source and SIGNOR curated interactions for DMXL1 Gene

Drugs & Compounds for DMXL1 Gene

No Compound Related Data Available

Transcripts for DMXL1 Gene

mRNA/cDNA for DMXL1 Gene

5 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DMXL1

Alternative Splicing Database (ASD) splice patterns (SP) for DMXL1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b · 31c ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38 ^ 39 ^ 40 ^ 41
SP1: - -
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:

Relevant External Links for DMXL1 Gene

GeneLoc Exon Structure for
DMXL1

Expression for DMXL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DMXL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DMXL1 Gene

This gene is overexpressed in Cervix (12.8), Adrenal (8.0), Serum (7.9), and Blymphocyte (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DMXL1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DMXL1

SOURCE GeneReport for Unigene cluster for DMXL1 Gene:

Hs.181042

mRNA Expression by UniProt/SwissProt for DMXL1 Gene:

Q9Y485-DMXL1_HUMAN
Tissue specificity: Expressed in bone, breast, eye, foreskin, heart, parathyroid, small intestine, testis, tonsils, placenta and uterus.

Evidence on tissue expression from TISSUES for DMXL1 Gene

  • Liver(4.5)
  • Skin(3)
  • Kidney(3)
  • Nervous system(2.9)
  • Blood(2.7)
  • Heart(2.6)
  • Intestine(2.5)
  • Spleen(2.5)
  • Muscle(2.5)
  • Lung(2.5)
  • Bone marrow(2.3)
  • Thyroid gland(2.2)
  • Stomach(2.1)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with DMXL1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DMXL1 Gene

Orthologs for DMXL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DMXL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DMXL1 30 31
  • 99.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DMXL1 30 31
  • 92.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC534524 30
  • 92.46 (n)
DMXL1 31
  • 92 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dmxl1 30
  • 89.78 (n)
Mouse
(Mus musculus)
Mammalia Dmxl1 30 17 31
  • 89.46 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DMXL1 31
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DMXL1 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DMXL1 30 31
  • 76.71 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DMXL1 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dmxl1 30
  • 71.93 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11740 30
Zebrafish
(Danio rerio)
Actinopterygii DMXL1 31
  • 75 (a)
OneToOne
LOC100333625 30
  • 59.12 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Rbcn-3A 31
  • 34 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea rbc-1 31
  • 27 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAV1 31 33
  • 23 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 35 (a)
OneToMany
Species where no ortholog for DMXL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DMXL1 Gene

ENSEMBL:
Gene Tree for DMXL1 (if available)
TreeFam:
Gene Tree for DMXL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DMXL1: view image

Paralogs for DMXL1 Gene

Paralogs for DMXL1 Gene

(1) SIMAP similar genes for DMXL1 Gene using alignment to 7 proteins:

  • DMXL1_HUMAN
  • B2RWN7_HUMAN
  • D3DT08_HUMAN
  • E7EMZ0_HUMAN
  • F1T0K4_HUMAN
  • F5H269_HUMAN
  • Q05C95_HUMAN
genes like me logo Genes that share paralogs with DMXL1: view

Variants for DMXL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DMXL1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
709226 Likely Benign: not provided 119,129,431(+) T/C INTRON_VARIANT
712576 Benign: not provided 119,197,942(+) A/G SYNONYMOUS_VARIANT
713080 Benign: not provided 119,116,244(+) C/T SYNONYMOUS_VARIANT
713892 Likely Benign: not provided 119,221,065(+) G/A MISSENSE_VARIANT
717210 Likely Benign: not provided 119,133,167(+) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DMXL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DMXL1 Gene

Variant ID Type Subtype PubMed ID
dgv5794n100 CNV gain 25217958
esv2670990 CNV deletion 23128226
esv2730670 CNV deletion 23290073
esv2759374 CNV loss 17122850
esv3402952 CNV insertion 20981092
esv3606479 CNV gain 21293372
nsv1016595 CNV gain 25217958
nsv1018539 CNV gain 25217958
nsv275 CNV insertion 15895083
nsv4973 CNV insertion 18451855
nsv509083 CNV insertion 20534489
nsv511113 OTHER complex 20534489
nsv599564 CNV gain 21841781

Variation tolerance for DMXL1 Gene

Residual Variation Intolerance Score: 3.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.93; 87.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DMXL1 Gene

Human Gene Mutation Database (HGMD)
DMXL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DMXL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMXL1 Gene

Disorders for DMXL1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DMXL1 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search DMXL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DMXL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DMXL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DMXL1 Gene

Publications for DMXL1 Gene

  1. Mapping and structure of DMXL1, a human homologue of the DmX gene from Drosophila melanogaster coding for a WD repeat protein. (PMID: 10708522) Kraemer C … Schmidt ER (Genomics 2000) 2 3 4 23
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3
  4. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3
  5. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3

Products for DMXL1 Gene

  • Signalway ELISA kits for DMXL1

Sources for DMXL1 Gene